Author Topic: Am I in the right place?  (Read 5585 times)

Jem

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  • Posts: 4
  • Reason for joining: My first grandchild has been diagnosed with CAPS ( MWS ) aged 18 months awaiting further genetic testing.
  • Diagnosed: 28th November 2016
Am I in the right place?
« on: November 29, 2016, 11:44:12 am »
Hi, our first grandchild now aged 18 months, had bloods sent to The Royal Free for genetic testing. His results confirmed Inherited Periodic Fever Syndrome. Yesterday he was seen at Bristol Children's Hospital and was diagnosed with CAPS (Most likely Muckel Wells Syndrome, will have further genetic testing to "pinpoint" this). Obviously as a family we are all very concerned and confused, with so many questions. I joined this forum today looking for support/answers, but am not sure now that this is the right place. I'd be extremely grateful if anyone can point me in the right direction? We live in Dorset. Thank you.

Miriam Vered

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Re: Am I in the right place?
« Reply #1 on: November 29, 2016, 07:36:58 pm »
Hello Jem,


Welcome to the forum.

I'm sorry to hear about your grandson's illness. But it is good that he has been diagnosed now, and effective treatments are available for this disorder.
Although most people on this forum have amyloidosis or a relative with amyloidosis, there are also some patients /relatives of patients with periodic fever syndromes. I hope some of them will answer you. Please let me know if you'd like me to send you links to previous forum discussions about the fever syndromes.
It's good that your grandson's bloods were sent to the NAC doctors at the Royal Free Periodic Fever clinic for genetic testing. Has he been referred to be seen by the NAC doctors yet? 
The CAPS National Treatment Service at the NAC is the only UK centre specialising in diagnosis and treatment of patients with CAPS. It has been commissioned by the NHS National Commissioning Group to provide the CAPS Treatment Service for the entire UK.

For more information see:
http://www.amyloidosis.org.uk/fever-syndromes/the-caps-national-treatment-service-2/
and:
http://www.amyloidosis.org.uk/fever-syndromes/the-inherited-fever-syndromes-information-on-each-syndrome/cryopyrin-associated-periodic-syndrome-caps/
There is also a patient information leaflet on CAPS available here: http://www.ucl.ac.uk/amyloidosis/pdfs/caps

I hope that helps.

Jem

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  • Posts: 4
  • Reason for joining: My first grandchild has been diagnosed with CAPS ( MWS ) aged 18 months awaiting further genetic testing.
  • Diagnosed: 28th November 2016
Re: Am I in the right place?
« Reply #2 on: November 30, 2016, 11:09:38 am »
Thank you for taking the time to reply and including the links. Not sure as yet if he's being referred to NAC,  he is under Professors Ramanam  and Finn at Bristol. My daughter was told on Monday that at present he is too young for the treatment available and will have to wait for the condition to worsen and become an necessity. They did however say they might trial something in January after more testing. Yes please! Forward any posts that you feel relevant.
Thanks again
Jem

patpinchin

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Re: Am I in the right place?
« Reply #3 on: December 01, 2016, 10:30:12 am »
Hello Jem,

Very sorry indeed to read about your Grandson's diagnosis with a rare disease. What a worry for you and your family. I live in Dorset too with two grandchildren in Dorchester. The youngest is 19 months old now about the same age as your Grandson. I live in Poole. Whereabouts in Dorset are you?

As Miriam said, it is good that Drs in Bristol have got to grips with the situation and are trying to do the best they can.

Rare diseases need expert advice on diagnosis treatment and management and as the NAC is the only centre with the appropriate specialist expertise in the U.K. it makes complete sense for your Grandson to be seen by a specialist Dr there. Please do ask for your Grandson to be referred. He will be in the very capable hands of the only experts for CAPS in the U.K.

All known amyloidosis patients in the U.K. are automatically referred to the NAC because it is the National Referral Centre for the disease. The Drs there really are experts in their field. Additionally as a centre for rare diseases, they understand patients' unusual concerns in a highly specialised way. Rare diseases are very isolating. All NAC patients are treated with the utmost care and compassion. The NAC is unparalleled in everything they do. Do take Miriam's advice.

In the last issue of the NAC newsletter, there was a patient experience from David Turner who has CAPS. Whilst as an adult, his case is very different from your Grandson's it might be interesting for you to read. Here is the link: https://www.ucl.ac.uk/amyloidosis/pdfs/nac_newsletter_8

My very best wishes to you and your family for whatever lies ahead.


« Last Edit: December 01, 2016, 10:32:51 am by patpinchin »
Pat

Jem

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  • Posts: 4
  • Reason for joining: My first grandchild has been diagnosed with CAPS ( MWS ) aged 18 months awaiting further genetic testing.
  • Diagnosed: 28th November 2016
Re: Am I in the right place?
« Reply #4 on: December 01, 2016, 01:52:54 pm »
Hi Pat,
Thank you for your reply and OMG I have just read David's piece. What I haven't said is that I have been suffering the same symptoms as my grandson for the last seven years. I was convinced I was infectious and had given him some awful disease (as I was and still am undiagnosed). It was only that at his last admission to hospital my daughter was asked about family history and she mentioned me and my fears. I gave permission for my records to be shared, they thought it too similar not to be connected, they were already considering CAPS, so sent his bloods to the Royal Free. My Consultant wants to refer me but they are awaiting my daughter's results to come back first.
I live in Poole !! My daughter is in Exeter until Monday, when on top of all this stress, she has to move houses to Plymouth  (hubby in the forces ).
Jem (Julie)